NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487076.1
Allele description [Variation Report for NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala)]
NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala)
Condition(s)
- Name:
- Hypertrichotic osteochondrodysplasia Cantu type
- Synonyms:
- Hypertrichotic osteochondrodysplasia; Cantu syndrome
- Identifiers:
- MONDO: MONDO:0009406; MedGen: C0795905; Orphanet: 1517; OMIM: 239850
- Name:
- Dilated cardiomyopathy 1O (CMD1O)
- Synonyms:
- CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
- Identifiers:
- MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569
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BioSample Links for SRA (Select 2302577) (1)
BioSample
-
Aquaman
Aquamanbiosample
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024